Table I.
Summary of Exome Sequencing Results#
| Individual | De novo non-sense |
De novo mis-sense |
RHD non-syn1 |
RHD syn2 | DCH3 | Candidate mutation |
|---|---|---|---|---|---|---|
| GHC-T | 2 | 0 | 15 | 17 | 1 | NDUFB11 |
| GHC-G | 1 | 0 | 15 | 10 | 2 | NDUFB11 |
| HC2 | 0 | 0 | 9 | 12 | 1 | |
| HC4 | n/a4 | n/a | n/a | n/a | n/a | MT-TT |
| HC7 | 0 | 1 | 19 | 16 | 7 | NDUFAF2/B9 |
#
See Supplemental Table S3 for a description of the rare or de novo variants at each locus.
1
Rare homozygous non-synonymous substitutions inherited from carrier parents
2
Rare homozygous synonymous substitutions inherited from carrier parents
3
Deleterious compound heterozygotes, at least one allele predicted deleterious by Mutation Taster
4
Data not available since one parent missing